Canonical Allele Identifier: CA120176
Gene: ACADSB HGNC NCBI

Linked Data

ClinVar Variation Id: 9202
dbSNP Id: rs58639322

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.123040605C>T , CM000672.2:g.123040605C>T GRCh38
NC_000010.10:g.124800121C>T , CM000672.1:g.124800121C>T GRCh37
NC_000010.9:g.124790111C>T NCBI36
NG_008003.1:g.36693C>T , LRG_451:g.36693C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358776.7:c.443C>T MANE Select ENSP00000357873.3:p.Thr148Ile
ENST00000358776.6:c.443C>T ENSP00000357873.3:p.Thr148Ile
ENST00000368869.8:c.137C>T ENSP00000357862.4:p.Thr46Ile
ENST00000411816.2:n.460C>T
NM_001609.3:c.443C>T , LRG_451t1:c.443C>T NP_001600.1:p.Thr148Ile
NM_001330174.1:c.137C>T NP_001317103.1:p.Thr46Ile
NM_001330174.2:c.137C>T NP_001317103.1:p.Thr46Ile
NM_001609.4:c.443C>T MANE Select NP_001600.1:p.Thr148Ile
NM_001330174.3:c.137C>T NP_001317103.1:p.Thr46Ile